HEYL

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes a member of the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcription factors. The sequence of the encoded protein contains a conserved bHLH and orange domain, but its YRPW motif has diverged from other HESR family members. It is thought to be an effector of Notch signaling and a regulator of cell fate decisions. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1metanephric mesenchyme development (GO:0072075)5.45122254
2cardiac myofibril assembly (GO:0055003)5.25780173
3protein heterotrimerization (GO:0070208)5.01605223
4kidney mesenchyme development (GO:0072074)4.96207730
5response to inactivity (GO:0014854)4.55872999
6myofibril assembly (GO:0030239)4.35147054
7cell migration involved in heart development (GO:0060973)4.33978850
8response to stimulus involved in regulation of muscle adaptation (GO:0014874)4.31006185
9vascular endothelial growth factor signaling pathway (GO:0038084)4.27356921
10heart trabecula formation (GO:0060347)4.20696566
11retina vasculature morphogenesis in camera-type eye (GO:0061299)4.15869730
12cell proliferation involved in metanephros development (GO:0072203)4.11672374
13peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)4.10749792
14glomerular basement membrane development (GO:0032836)3.97817722
15glomerular filtration (GO:0003094)3.96177608
16striated muscle atrophy (GO:0014891)3.91095834
17trabecula formation (GO:0060343)3.83534303
18negative regulation of protein localization to cell surface (GO:2000009)3.82116964
19sarcomere organization (GO:0045214)3.77142770
20aorta morphogenesis (GO:0035909)3.74885139
21positive regulation of odontogenesis (GO:0042482)3.70966310
22collagen fibril organization (GO:0030199)3.67509418
23regulation of somitogenesis (GO:0014807)3.62883141
24cell proliferation involved in kidney development (GO:0072111)3.56953034
25renal filtration (GO:0097205)3.56519636
26lymph vessel development (GO:0001945)3.56240536
27smooth muscle tissue development (GO:0048745)3.49321712
28plasma membrane repair (GO:0001778)3.48872027
29extracellular fibril organization (GO:0043206)3.46629373
30* endocardial cushion morphogenesis (GO:0003203)3.44449888
31positive regulation of myotube differentiation (GO:0010831)3.44157247
32basement membrane organization (GO:0071711)3.41965031
33bone trabecula formation (GO:0060346)3.41530360
34actin filament-based movement (GO:0030048)3.39492173
35relaxation of smooth muscle (GO:0044557)3.37191590
36muscle cell cellular homeostasis (GO:0046716)3.36264412
37cellular response to vascular endothelial growth factor stimulus (GO:0035924)3.35786790
38muscle atrophy (GO:0014889)3.35549169
39response to muscle activity (GO:0014850)3.34772216
40keratan sulfate catabolic process (GO:0042340)3.34646686
41cardiac cell development (GO:0055006)3.30203775
42negative regulation of cardiac muscle cell apoptotic process (GO:0010667)3.27365813
43negative regulation of potassium ion transmembrane transport (GO:1901380)3.26138583
44skeletal muscle contraction (GO:0003009)3.24720799
45coronary vasculature morphogenesis (GO:0060977)3.24132071
46endothelium development (GO:0003158)3.24124295
47muscle cell proliferation (GO:0033002)3.23463894
48dermatan sulfate biosynthetic process (GO:0030208)3.22802873
49regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.22191799
50striated muscle adaptation (GO:0014888)3.18999940
51negative regulation of potassium ion transmembrane transporter activity (GO:1901017)3.18551934
52skeletal muscle fiber development (GO:0048741)3.18389273
53cardiac muscle cell development (GO:0055013)3.18194393
54regulation of p38MAPK cascade (GO:1900744)3.17468886
55skeletal muscle tissue development (GO:0007519)3.12012346
56response to gravity (GO:0009629)3.09280177
57regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)3.08919504
58striated muscle hypertrophy (GO:0014897)3.07376689
59actomyosin structure organization (GO:0031032)3.07206401
60negative regulation of chondrocyte differentiation (GO:0032331)3.06371326
61regulation of integrin-mediated signaling pathway (GO:2001044)3.05665762
62cardiac muscle cell proliferation (GO:0060038)3.05464465
63negative regulation of homotypic cell-cell adhesion (GO:0034111)3.04376742
64myoblast fusion (GO:0007520)3.02817017
65cGMP-mediated signaling (GO:0019934)3.00695531
66endothelial cell chemotaxis (GO:0035767)3.00469296
67cardiac muscle adaptation (GO:0014887)2.99813229
68cardiac muscle hypertrophy in response to stress (GO:0014898)2.99813229
69muscle hypertrophy in response to stress (GO:0003299)2.99813229
70Notch signaling involved in heart development (GO:0061314)2.97372279
71muscle filament sliding (GO:0030049)2.96803966
72actin-myosin filament sliding (GO:0033275)2.96803966
73regulation of skeletal muscle contraction (GO:0014819)2.96534326
74potassium ion import (GO:0010107)2.96373015
75striated muscle contraction (GO:0006941)2.96075711
76* mesenchyme morphogenesis (GO:0072132)2.95340871
77myelination in peripheral nervous system (GO:0022011)2.95322602
78peripheral nervous system axon ensheathment (GO:0032292)2.95322602
79endothelial cell morphogenesis (GO:0001886)2.95272785
80myotube cell development (GO:0014904)2.95113344
81dermatan sulfate metabolic process (GO:0030205)2.95103487
82heart valve formation (GO:0003188)2.94774849
83muscle organ development (GO:0007517)2.94509754
84collagen metabolic process (GO:0032963)2.91425359
85* glomerulus development (GO:0032835)2.91191281
86regulation of actin filament-based movement (GO:1903115)2.91179540
87venous blood vessel morphogenesis (GO:0048845)2.90707202
88muscle structure development (GO:0061061)2.89756032
89regulation of sarcomere organization (GO:0060297)2.89492084
90patterning of blood vessels (GO:0001569)2.87146647
91positive regulation of catenin import into nucleus (GO:0035413)2.86587545
92heart process (GO:0003015)2.86250849
93heart contraction (GO:0060047)2.86250849
94negative regulation of cartilage development (GO:0061037)2.86054702
95positive regulation of metanephros development (GO:0072216)2.85572266
96positive regulation of myoblast differentiation (GO:0045663)2.85515221
97regulation of endothelial cell differentiation (GO:0045601)2.85280124
98myotube differentiation (GO:0014902)2.85252823
99gonadal mesoderm development (GO:0007506)2.82632528
100regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)2.81983049
101cardiac right ventricle morphogenesis (GO:0003215)2.80944303
102sequestering of extracellular ligand from receptor (GO:0035581)2.79779621
103collagen catabolic process (GO:0030574)2.78912891
104multicellular organismal macromolecule metabolic process (GO:0044259)2.78721090
105muscle tissue development (GO:0060537)2.78504259
106regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)2.78081074
107fibril organization (GO:0097435)2.76516673
108positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)2.76095945
109neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)2.75895282
110muscle contraction (GO:0006936)2.75055442
111skin morphogenesis (GO:0043589)2.74871067
112negative regulation of striated muscle cell apoptotic process (GO:0010664)2.74839242
113ventricular cardiac muscle tissue morphogenesis (GO:0055010)2.74259218
114striated muscle cell proliferation (GO:0014855)2.74028495
115cochlea morphogenesis (GO:0090103)2.73900583
116fibroblast migration (GO:0010761)2.73543594
117lymphangiogenesis (GO:0001946)2.72917185
118blood vessel maturation (GO:0001955)2.72600484
119muscle hypertrophy (GO:0014896)2.71973132
120outflow tract septum morphogenesis (GO:0003148)2.70843196
121syncytium formation by plasma membrane fusion (GO:0000768)2.70465325
122regulation of cardioblast differentiation (GO:0051890)2.69701582
123positive regulation of glycogen biosynthetic process (GO:0045725)2.69474106
124striated muscle tissue development (GO:0014706)2.69075362
125actin-mediated cell contraction (GO:0070252)2.68556562
126regulation of striated muscle contraction (GO:0006942)2.67712163
127muscle system process (GO:0003012)2.67551676
128positive regulation of phosphoprotein phosphatase activity (GO:0032516)2.66889331
129tooth mineralization (GO:0034505)2.66796331
130cardiac muscle contraction (GO:0060048)2.66625182
131multicellular organismal metabolic process (GO:0044236)2.66007436
132atrial septum morphogenesis (GO:0060413)2.65695456
133multicellular organismal catabolic process (GO:0044243)2.64354562
134cardiac muscle tissue morphogenesis (GO:0055008)2.63765537
135endodermal cell differentiation (GO:0035987)2.62750897
136* heart valve morphogenesis (GO:0003179)2.61724516
137muscle tissue morphogenesis (GO:0060415)2.61375185
138artery morphogenesis (GO:0048844)2.60791465
139extracellular matrix assembly (GO:0085029)2.57078739
140regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)2.55564057
141blood vessel morphogenesis (GO:0048514)2.53254278
142endothelial cell differentiation (GO:0045446)2.46623004
143extracellular matrix disassembly (GO:0022617)2.45550126
144negative regulation of catenin import into nucleus (GO:0035414)2.45013330
145growth hormone secretion (GO:0030252)2.44764832
146muscle cell fate commitment (GO:0042693)2.44596758
147regulation of cardiac muscle cell contraction (GO:0086004)2.44132629
148bundle of His cell to Purkinje myocyte communication (GO:0086069)2.42756264
149cardiac muscle hypertrophy (GO:0003300)2.42004069

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRIM28_21343339_ChIP-Seq_HEK293_Human5.70619153
2CLOCK_20551151_ChIP-Seq_293T_Human3.16052921
3TP63_17297297_ChIP-ChIP_HaCaT_Human3.12359357
4RARG_19884340_ChIP-ChIP_MEFs_Mouse2.93489881
5EP300_21415370_ChIP-Seq_HL-1_Mouse2.89484677
6ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.71492504
7RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.64643890
8TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.44567174
9EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse2.44468293
10PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.41054474
11* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.33865529
12PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.30359707
13ESR2_21235772_ChIP-Seq_MCF-7_Human2.20815998
14* SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.17489787
15EED_16625203_ChIP-ChIP_MESCs_Mouse2.11322514
16RNF2_18974828_ChIP-Seq_MESCs_Mouse2.07489462
17EZH2_18974828_ChIP-Seq_MESCs_Mouse2.07489462
18* SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.04683299
19ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.99733466
20ESR1_20079471_ChIP-ChIP_T-47D_Human1.93526349
21* TBX20_22080862_ChIP-Seq_HEART_Mouse1.90402945
22* TBX20_22328084_ChIP-Seq_HEART_Mouse1.90402945
23* WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.88410662
24ESR1_21235772_ChIP-Seq_MCF-7_Human1.86941264
25EZH2_22144423_ChIP-Seq_EOC_Human1.86376578
26CDX2_19796622_ChIP-Seq_MESCs_Mouse1.81449739
27CJUN_26792858_Chip-Seq_BT549_Human1.79472381
28* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.78086496
29WT1_19549856_ChIP-ChIP_CCG9911_Human1.68233343
30SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.65063895
31* SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.63191417
32JARID2_20075857_ChIP-Seq_MESCs_Mouse1.59086055
33EZH2_27304074_Chip-Seq_ESCs_Mouse1.56964831
34* MTF2_20144788_ChIP-Seq_MESCs_Mouse1.55958638
35RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.50857176
36RNF2_27304074_Chip-Seq_ESCs_Mouse1.48668226
37ZNF217_24962896_ChIP-Seq_MCF-7_Human1.48573722
38BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.46348772
39PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.46323585
40CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.45264847
41AR_21572438_ChIP-Seq_LNCaP_Human1.44104603
42* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.43795733
43ISL1_27105846_Chip-Seq_CPCs_Mouse1.43589166
44* JARID2_20064375_ChIP-Seq_MESCs_Mouse1.42471734
45TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.42027820
46GATA2_21666600_ChIP-Seq_HMVEC_Human1.37359930
47KDM2B_26808549_Chip-Seq_SUP-B15_Human1.33908003
48CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.33719174
49NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.32440917
50* EZH2_27294783_Chip-Seq_ESCs_Mouse1.32397211
51RING1B_27294783_Chip-Seq_ESCs_Mouse1.32323686
52PPAR_26484153_Chip-Seq_NCI-H1993_Human1.32032240
53DROSHA_22980978_ChIP-Seq_HELA_Human1.32002231
54RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.31592580
55MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.28952250
56TP53_20018659_ChIP-ChIP_R1E_Mouse1.28461896
57* SUZ12_27294783_Chip-Seq_ESCs_Mouse1.28171676
58TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.27482748
59THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.25568834
60AHR_22903824_ChIP-Seq_MCF-7_Human1.24654865
61SOX9_24532713_ChIP-Seq_HFSC_Mouse1.24229626
62* PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.22956819
63NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.22287110
64TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.20517195
65ELK3_25401928_ChIP-Seq_HUVEC_Human1.19813329
66KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.19771463
67KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.19771463
68KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.19771463
69CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.19767153
70* SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.19025828
71BRD4_25478319_ChIP-Seq_HGPS_Human1.18027733
72ZFP281_18757296_ChIP-ChIP_E14_Mouse1.17610223
73TP53_18474530_ChIP-ChIP_U2OS_Human1.17206421
74ARNT_22903824_ChIP-Seq_MCF-7_Human1.17008795
75KDM2B_26808549_Chip-Seq_K562_Human1.15665024
76SA1_22415368_ChIP-Seq_MEFs_Mouse1.15263337
77TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.11951653
78PIAS1_25552417_ChIP-Seq_VCAP_Human1.11615858
79DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.11409735
80NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.09605997
81NRF2_20460467_ChIP-Seq_MEFs_Mouse1.09605997
82LXR_22292898_ChIP-Seq_THP-1_Human1.08678811
83CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.05909478
84RAD21_21589869_ChIP-Seq_MESCs_Mouse1.04536813
85ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.01943534
86MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.01588978
87RING1B_27294783_Chip-Seq_NPCs_Mouse1.00724020
88SMAD_19615063_ChIP-ChIP_OVARY_Human1.00335442
89TP53_16413492_ChIP-PET_HCT116_Human0.99207940
90CTNNB1_20460455_ChIP-Seq_HCT116_Human0.99129308
91FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.98831187
92TP53_23651856_ChIP-Seq_MEFs_Mouse0.98809469
93SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.97982579
94PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.97792120
95SALL4_18804426_ChIP-ChIP_XEN_Mouse0.97223051
96* CTCF_27219007_Chip-Seq_Bcells_Human0.97082557
97TCF4_18268006_ChIP-ChIP_LS174T_Human0.96745305
98ERG_21242973_ChIP-ChIP_JURKAT_Human0.95544920
99PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.95076885
100ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.94640118
101HIF1A_21447827_ChIP-Seq_MCF-7_Human0.94381316
102* OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.93695834
103SMC1_22415368_ChIP-Seq_MEFs_Mouse0.93072417
104UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.91946362
105* P300_27058665_Chip-Seq_ZR-75-30cells_Human0.91485610
106FOXO3_23340844_ChIP-Seq_DLD1_Human0.90383808
107KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.90212176
108SMC3_22415368_ChIP-Seq_MEFs_Mouse0.89269977
109KDM2B_26808549_Chip-Seq_DND41_Human0.88544976
110ZFP281_27345836_Chip-Seq_ESCs_Mouse0.87671000
111STAT6_21828071_ChIP-Seq_BEAS2B_Human0.87618814
112CBX2_27304074_Chip-Seq_ESCs_Mouse0.87282309
113BCAT_22108803_ChIP-Seq_LS180_Human0.87134918
114SMAD4_19686287_ChIP-ChIP_HaCaT_Human0.86955510
115PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.86730638
116RUNX1_27514584_Chip-Seq_MCF-7_Human0.86618924
117* RACK7_27058665_Chip-Seq_MCF-7_Human0.85910182
118NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.85288290
119NFIB_24661679_ChIP-Seq_LUNG_Mouse0.85252402
120NR3C1_23031785_ChIP-Seq_PC12_Mouse0.85044915
121TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.83445842
122MYC_27129775_Chip-Seq_CORNEA_Mouse0.82137598

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen5.60541663
2MP0005503_abnormal_tendon_morphology3.95959870
3MP0004272_abnormal_basement_membrane3.93632140
4MP0005275_abnormal_skin_tensile3.88872396
5MP0000751_myopathy3.87777162
6MP0003279_aneurysm3.60825409
7MP0002837_dystrophic_cardiac_calcinosis3.30242262
8MP0010368_abnormal_lymphatic_system2.92963017
9MP0004084_abnormal_cardiac_muscle2.77960927
10MP0001958_emphysema2.54921320
11MP0003705_abnormal_hypodermis_morpholog2.35125044
12MP0005623_abnormal_meninges_morphology2.25911852
13MP0000749_muscle_degeneration2.24999049
14MP0004215_abnormal_myocardial_fiber2.21207746
15MP0005330_cardiomyopathy2.17262783
16MP0001879_abnormal_lymphatic_vessel2.13477792
17MP0009384_cardiac_valve_regurgitation2.08452717
18MP0004036_abnormal_muscle_relaxation2.04546504
19MP0000767_abnormal_smooth_muscle2.03418288
20MP0006138_congestive_heart_failure1.91596049
21MP0000750_abnormal_muscle_regeneration1.90007585
22MP0003878_abnormal_ear_physiology1.83537531
23MP0005377_hearing/vestibular/ear_phenot1.83537531
24MP0003828_pulmonary_edema1.83515875
25MP0002108_abnormal_muscle_morphology1.82764775
26MP0004087_abnormal_muscle_fiber1.81222183
27MP0002972_abnormal_cardiac_muscle1.79884430
28MP0008775_abnormal_heart_ventricle1.75561495
29MP0005620_abnormal_muscle_contractility1.73552519
30MP0001542_abnormal_bone_strength1.68688643
31MP0005508_abnormal_skeleton_morphology1.67703008
32MP0003646_muscle_fatigue1.66376329
33MP0001544_abnormal_cardiovascular_syste1.62402034
34MP0005385_cardiovascular_system_phenoty1.62402034
35MP0003566_abnormal_cell_adhesion1.60862064
36MP0006054_spinal_hemorrhage1.58398662
37MP0010630_abnormal_cardiac_muscle1.56425991
38MP0002933_joint_inflammation1.47484304
39MP0003137_abnormal_impulse_conducting1.45841220
40MP0000534_abnormal_ureter_morphology1.43873884
41MP0000013_abnormal_adipose_tissue1.42538620
42MP0005369_muscle_phenotype1.36441984
43MP0002127_abnormal_cardiovascular_syste1.35555490
44MP0002106_abnormal_muscle_physiology1.34916386
45MP0005165_increased_susceptibility_to1.33658640
46MP0004145_abnormal_muscle_electrophysio1.29950926
47MP0004085_abnormal_heartbeat1.26340044
48MP0002128_abnormal_blood_circulation1.25309346
49MP0009278_abnormal_bone_marrow1.25067660
50MP0002295_abnormal_pulmonary_circulatio1.23882567
51MP0000759_abnormal_skeletal_muscle1.22163452
52MP0000462_abnormal_digestive_system1.21758713
53MP0004130_abnormal_muscle_cell1.20408818
54MP0005595_abnormal_vascular_smooth1.19570729
55MP0009250_abnormal_appendicular_skeleto1.19383321
56MP0010030_abnormal_orbit_morphology1.17985210
57MP0003942_abnormal_urinary_system1.17453373
58MP0002060_abnormal_skin_morphology1.16801752
59MP0000762_abnormal_tongue_morphology1.16240944
60MP0005171_absent_coat_pigmentation1.13583064
61MP0004484_altered_response_of1.12713526
62MP0000733_abnormal_muscle_development1.12374470
63MP0003115_abnormal_respiratory_system1.09610314
64MP0000003_abnormal_adipose_tissue1.09118978
65MP0003385_abnormal_body_wall1.07579866
66MP0002234_abnormal_pharynx_morphology1.03270065
67MP0002269_muscular_atrophy1.02017296
68MP0005670_abnormal_white_adipose1.01651527
69MP0002249_abnormal_larynx_morphology0.99131576
70MP0000266_abnormal_heart_morphology0.97862180
71MP0002925_abnormal_cardiovascular_devel0.97684276
72MP0002009_preneoplasia0.96249175
73MP0001614_abnormal_blood_vessel0.95518823
74MP0004134_abnormal_chest_morphology0.95436963
75MP0000747_muscle_weakness0.94456867
76MP0002932_abnormal_joint_morphology0.93414883
77MP0003045_fibrosis0.93300679
78MP0005375_adipose_tissue_phenotype0.91112932
79MP0002282_abnormal_trachea_morphology0.90983855
80MP0005023_abnormal_wound_healing0.89854551
81MP0004233_abnormal_muscle_weight0.89823696
82MP0001661_extended_life_span0.87275009
83MP0004510_myositis0.87076606
84MP0005666_abnormal_adipose_tissue0.85671342
85MP0000049_abnormal_middle_ear0.85533143
86MP0004858_abnormal_nervous_system0.85441050
87MP0005187_abnormal_penis_morphology0.84073495
88MP0000343_altered_response_to0.83439957
89MP0009053_abnormal_anal_canal0.81318033
90MP0004270_analgesia0.81089951
91MP0003091_abnormal_cell_migration0.80840550
92MP0003935_abnormal_craniofacial_develop0.80402930
93MP0004185_abnormal_adipocyte_glucose0.79681046
94MP0003567_abnormal_fetal_cardiomyocyte0.78571959
95MP0000249_abnormal_blood_vessel0.78030948
96MP0001915_intracranial_hemorrhage0.77718933
97MP0005164_abnormal_response_to0.75997513
98MP0001299_abnormal_eye_distance/0.75994345
99MP0003283_abnormal_digestive_organ0.75654507
100MP0000230_abnormal_systemic_arterial0.74804415
101MP0000163_abnormal_cartilage_morphology0.74359288
102MP0003950_abnormal_plasma_membrane0.71257808
103MP0000428_abnormal_craniofacial_morphol0.70472465
104MP0005367_renal/urinary_system_phenotyp0.69816099
105MP0000516_abnormal_urinary_system0.69816099
106MP0005388_respiratory_system_phenotype0.68954217
107MP0002133_abnormal_respiratory_system0.68954217
108MP0009780_abnormal_chondrocyte_physiolo0.68777124
109MP0005257_abnormal_intraocular_pressure0.68273583
110MP0002896_abnormal_bone_mineralization0.67266638
111MP0002089_abnormal_postnatal_growth/wei0.66803471
112MP0004883_abnormal_blood_vessel0.66457047
113MP0003941_abnormal_skin_development0.66189658
114MP0001346_abnormal_lacrimal_gland0.65784803
115MP0005390_skeleton_phenotype0.61586680

Predicted human phenotypes

RankGene SetZ-score
1Popliteal pterygium (HP:0009756)6.89100392
2Protrusio acetabuli (HP:0003179)5.37529904
3Broad metatarsal (HP:0001783)5.07428203
4Amniotic constriction ring (HP:0009775)4.85034143
5Abnormality of placental membranes (HP:0011409)4.85034143
6Premature rupture of membranes (HP:0001788)4.76779827
7Ankle contracture (HP:0006466)4.49612552
8Type 2 muscle fiber atrophy (HP:0003554)4.42831756
9Aortic dissection (HP:0002647)4.36839331
10Aplasia of the musculature (HP:0100854)4.20291933
11Increased connective tissue (HP:0009025)4.07379034
12Aortic aneurysm (HP:0004942)4.04127775
13Muscle fiber atrophy (HP:0100295)4.01607685
14Type 1 muscle fiber predominance (HP:0003803)4.00360459
15Abnormality of the neuromuscular junction (HP:0003398)3.98652302
16Fatigable weakness (HP:0003473)3.98652302
17Thin ribs (HP:0000883)3.97012727
18Fetal akinesia sequence (HP:0001989)3.95418664
19Malignant hyperthermia (HP:0002047)3.83475550
20Pulmonary artery stenosis (HP:0004415)3.83017533
21Sudden death (HP:0001699)3.76674422
22Follicular hyperkeratosis (HP:0007502)3.73363557
23Distal arthrogryposis (HP:0005684)3.72714299
24Pterygium (HP:0001059)3.72489140
25Cerebral aneurysm (HP:0004944)3.68526111
26Muscle fiber splitting (HP:0003555)3.67691981
27Ventricular tachycardia (HP:0004756)3.64307929
28Gowers sign (HP:0003391)3.60163442
29Abnormality of the calf musculature (HP:0001430)3.43180787
30Nemaline bodies (HP:0003798)3.42164902
31Bladder diverticulum (HP:0000015)3.40492290
32Increased variability in muscle fiber diameter (HP:0003557)3.37889681
33Right ventricular cardiomyopathy (HP:0011663)3.33112353
34Mildly elevated creatine phosphokinase (HP:0008180)3.27712272
35Ulnar deviation of the wrist (HP:0003049)3.25775716
36Lipoatrophy (HP:0100578)3.23168268
37Atrial fibrillation (HP:0005110)3.22601818
38Easy fatigability (HP:0003388)3.18424409
39Weak cry (HP:0001612)3.17641275
40Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)3.13404909
41Asymmetric septal hypertrophy (HP:0001670)3.08582786
42Short hallux (HP:0010109)3.05835754
43Hypoplastic ischia (HP:0003175)3.03661202
44Soft skin (HP:0000977)3.03227585
45Mesangial abnormality (HP:0001966)3.00380459
46Spinal rigidity (HP:0003306)2.99842785
47Bone cyst (HP:0012062)2.96448540
48Primary atrial arrhythmia (HP:0001692)2.95426593
49Aplasia/Hypoplasia of the pubic bone (HP:0009104)2.94678405
50Depressed nasal tip (HP:0000437)2.92256576
51Hypoplastic heart (HP:0001961)2.91745087
52Neonatal short-limb short stature (HP:0008921)2.91717623
53Abnormality of skeletal muscle fiber size (HP:0012084)2.91247234
54Muscle fiber inclusion bodies (HP:0100299)2.90287121
55Supraventricular arrhythmia (HP:0005115)2.89632815
56Distal lower limb muscle weakness (HP:0009053)2.89071623
57Calcaneovalgus deformity (HP:0001848)2.88525734
58Shallow orbits (HP:0000586)2.83943082
59Round ear (HP:0100830)2.83766917
60Atrophic scars (HP:0001075)2.82163394
61Aplasia/Hypoplasia of the hallux (HP:0008362)2.81152717
62Calf muscle hypertrophy (HP:0008981)2.78605852
63Supraventricular tachycardia (HP:0004755)2.78424165
64Abnormality of the ischium (HP:0003174)2.72947300
65Hyporeflexia of lower limbs (HP:0002600)2.62398287
66Mitral valve prolapse (HP:0001634)2.55429264
67Fragile skin (HP:0001030)2.54071476
68Wrist flexion contracture (HP:0001239)2.53297516
69Dilatation of the ascending aorta (HP:0005111)2.52945692
70Deformed tarsal bones (HP:0008119)2.50050579
71Bulbar palsy (HP:0001283)2.48853301
72Aneurysm (HP:0002617)2.46203524
73Difficulty running (HP:0009046)2.45208569
74Akinesia (HP:0002304)2.44552098
75Muscle hypertrophy of the lower extremities (HP:0008968)2.43708243
76Vascular tortuosity (HP:0004948)2.41002595
77Aplasia/Hypoplasia involving the musculature (HP:0001460)2.38593926
78Dilated cardiomyopathy (HP:0001644)2.34453739
79Prolonged QT interval (HP:0001657)2.30619674
80Exercise-induced myalgia (HP:0003738)2.30302334
81Neck muscle weakness (HP:0000467)2.26813843
82Infantile muscular hypotonia (HP:0008947)2.23889182
83Venous insufficiency (HP:0005293)2.22225646
84Mitral stenosis (HP:0001718)2.22021082
85Exercise-induced muscle cramps (HP:0003710)2.21315686
86Difficulty climbing stairs (HP:0003551)2.21275569
87Hip contracture (HP:0003273)2.21209444
88Abnormality of dentin (HP:0010299)2.18591049
89Slender build (HP:0001533)2.18156835
90EMG: myopathic abnormalities (HP:0003458)2.18149800
91Limited hip movement (HP:0008800)2.17247392
92Mitral regurgitation (HP:0001653)2.15391142
93Venous abnormality (HP:0002624)2.11100919
94Joint stiffness (HP:0001387)2.09493485
95Scapular winging (HP:0003691)2.09395988
96Chondrocalcinosis (HP:0000934)2.08101949
97Abnormalities of placenta or umbilical cord (HP:0001194)2.07734715
98Alopecia of scalp (HP:0002293)2.07121939
99Subaortic stenosis (HP:0001682)2.05873473
100Abnormality of the left ventricular outflow tract (HP:0011103)2.05873473
101Nonprogressive disorder (HP:0003680)2.05452387
102Camptodactyly of toe (HP:0001836)2.05189799
103Absent phalangeal crease (HP:0006109)2.04818769
104Respiratory insufficiency due to muscle weakness (HP:0002747)2.04739693
105Hypoplasia of the iris (HP:0007676)2.04493593
106Overgrowth (HP:0001548)2.03413483
107Lymphangioma (HP:0100764)2.03159085
108Cystic hygroma (HP:0000476)2.02805544
109Limb-girdle muscle atrophy (HP:0003797)2.01408651
110Wormian bones (HP:0002645)1.96568887
111Trismus (HP:0000211)1.95428707
112Aortic valve stenosis (HP:0001650)1.95152391
113Hyperextensible skin (HP:0000974)1.94588950
114Abnormality of Sharpey fibers (HP:0100685)1.93670804
115Axonal loss (HP:0003447)1.92299278
116Striae distensae (HP:0001065)1.90071101
117Short 4th metacarpal (HP:0010044)1.89780174
118Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)1.89780174
119Neoplasm of the heart (HP:0100544)1.89767103
120Arterial tortuosity (HP:0005116)1.88737248
121Vertebral arch anomaly (HP:0008438)1.88208651
122Myotonia (HP:0002486)1.87594700
123Abnormality of the 4th metacarpal (HP:0010012)1.86937994
124Atrioventricular block (HP:0001678)1.86413571
125Polycythemia (HP:0001901)1.85514882
126Biconcave vertebral bodies (HP:0004586)1.85008956
127Ectopia lentis (HP:0001083)1.84843393
128Syncope (HP:0001279)1.84535123
129Blue sclerae (HP:0000592)1.84358971
130Rectal prolapse (HP:0002035)1.84173876
131Abnormality of the pubic bones (HP:0003172)1.83034000
132Limb-girdle muscle weakness (HP:0003325)1.82354089
133Generalized amyotrophy (HP:0003700)1.82302834
134Facial shape deformation (HP:0011334)1.80839761
135Potter facies (HP:0002009)1.80839761
136Ventricular arrhythmia (HP:0004308)1.78771818
137Bundle branch block (HP:0011710)1.77962086
138Joint laxity (HP:0001388)1.75248099
139Hypoplastic left heart (HP:0004383)1.74575900
140Aortic regurgitation (HP:0001659)1.74334918
141Bowel diverticulosis (HP:0005222)1.73766623
142Knee flexion contracture (HP:0006380)1.72546040
143Morphological abnormality of the middle ear (HP:0008609)1.72471025
144Bicuspid aortic valve (HP:0001647)1.72022822

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MYLK4.80244287
2TTN4.38032623
3PDGFRA4.19017301
4TIE13.66139137
5DDR23.44942319
6TRIB33.31898270
7DMPK2.89492843
8MOS2.41843625
9EPHB22.40827097
10LATS12.39677964
11LMTK22.08913672
12TGFBR22.04794707
13EPHA31.97075415
14KIT1.87901693
15EPHB11.81267941
16ERN11.76698606
17PHKG11.73923080
18PHKG21.73923080
19RIPK11.62228158
20MAPK71.58746844
21PDGFRB1.53686119
22CDC42BPA1.51418353
23FER1.50196816
24FGFR41.48487995
25PAK21.46140207
26PKN21.45492221
27MUSK1.45188451
28ROCK11.36884718
29PIK3CA1.34297646
30ILK1.32460994
31OBSCN1.31812897
32PTK2B1.31153434
33CAMK1G1.28582010
34CAMK1D1.28000965
35SIK11.26436867
36NEK91.22813958
37LIMK11.19444276
38PAK31.11508890
39PTK61.07765639
40MARK21.05750169
41PRKD10.97782974
42PDK30.95244244
43PDK40.95244244
44INSRR0.94263384
45TRPM70.94088677
46ZAK0.92704629
47LATS20.90417189
48KDR0.89694349
49NME10.89230727
50FGFR30.86979653
51PRKCH0.85908578
52BCKDK0.83202170
53PRKD30.80149260
54MAPKAPK30.79534003
55PINK10.79269341
56PRKD20.77982109
57STK240.76085162
58ERBB30.75781130
59DAPK30.73682069
60VRK20.72946621
61TGFBR10.72838205
62MAP3K100.72427928
63MAP3K60.72066415
64ADRBK10.71627321
65CCNB10.68112455
66MET0.67251025
67ROCK20.62643709
68NTRK10.62023672
69WNK10.61592153
70CAMK40.61497770
71EEF2K0.60609882
72PDK20.59182103
73PRKG20.58651544
74CAMK2G0.58145534
75PTK20.57815460
76MAP3K30.57408757
77ABL20.57205434
78FRK0.56926956
79MELK0.56680388
80MAPK150.56639951
81NLK0.55116197
82MAP3K70.53712558
83PRKG10.53505538
84MTOR0.53165065
85RET0.53157872
86MAPKAPK50.52737170
87LRRK20.52643357
88PAK40.52398285
89FGFR20.50270368
90CAMK10.50105508
91PIK3CG0.48743204
92ERBB20.48316102
93MAPK40.47995022
94PRKCE0.47486427
95RPS6KA20.47100798
96STK390.47000309
97STK38L0.46907048
98STK30.45567547
99PRPF4B0.45312961
100PNCK0.45140256
101FGFR10.44351268
102MAPK120.44160389
103ERBB40.42324614
104RPS6KC10.42086189
105RPS6KL10.42086189
106IRAK10.41637839
107STK40.41248651
108GSK3A0.39640531
109WNK40.38832557
110HIPK20.38169351
111STK380.37896575
112AKT20.37198386
113PKN10.36890630
114MAP2K10.35747574
115CAMK2D0.35374716
116RPS6KA60.33792378
117PRKAA20.33669973
118CAMK2A0.33602459
119SMG10.32723197
120MAP3K120.32396765
121CAMK2B0.31888288
122MAP2K20.31730879
123NUAK10.31346451
124INSR0.31249641
125SGK30.30454376
126ICK0.30296454
127TESK10.29807865
128SRC0.28914662
129CDK90.28814333
130BMX0.28358115
131PRKACB0.22913068
132IGF1R0.22455305

Predicted pathways (KEGG)

RankGene SetZ-score
1ECM-receptor interaction_Homo sapiens_hsa045123.42514956
2Dilated cardiomyopathy_Homo sapiens_hsa054143.35207104
3Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054103.20709820
4Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.84721498
5Focal adhesion_Homo sapiens_hsa045102.65222935
6Protein digestion and absorption_Homo sapiens_hsa049742.43298442
7Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.41837152
8Dorso-ventral axis formation_Homo sapiens_hsa043202.07128771
9Notch signaling pathway_Homo sapiens_hsa043302.04195677
10Fatty acid degradation_Homo sapiens_hsa000711.91938759
11Viral myocarditis_Homo sapiens_hsa054161.83403208
12Adherens junction_Homo sapiens_hsa045201.69909112
13Amoebiasis_Homo sapiens_hsa051461.69732928
14Cardiac muscle contraction_Homo sapiens_hsa042601.64168407
152-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.58382953
16Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.56053434
17TGF-beta signaling pathway_Homo sapiens_hsa043501.51552895
18Fatty acid metabolism_Homo sapiens_hsa012121.49555030
19Propanoate metabolism_Homo sapiens_hsa006401.48850574
20Complement and coagulation cascades_Homo sapiens_hsa046101.48246573
21Basal cell carcinoma_Homo sapiens_hsa052171.46209037
22Sulfur relay system_Homo sapiens_hsa041221.42791431
23AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.40994448
24Proteoglycans in cancer_Homo sapiens_hsa052051.40338216
25Vascular smooth muscle contraction_Homo sapiens_hsa042701.39991736
26Small cell lung cancer_Homo sapiens_hsa052221.33107109
27PPAR signaling pathway_Homo sapiens_hsa033201.32895576
28cGMP-PKG signaling pathway_Homo sapiens_hsa040221.32013759
29Hippo signaling pathway_Homo sapiens_hsa043901.30890239
30Renin secretion_Homo sapiens_hsa049241.18253644
31PI3K-Akt signaling pathway_Homo sapiens_hsa041511.17497089
32Circadian rhythm_Homo sapiens_hsa047101.14957763
33Cyanoamino acid metabolism_Homo sapiens_hsa004601.14055868
34Tight junction_Homo sapiens_hsa045301.13344491
35Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.10123009
36Lysine degradation_Homo sapiens_hsa003101.09170823
37Insulin resistance_Homo sapiens_hsa049311.08999733
38Hedgehog signaling pathway_Homo sapiens_hsa043401.08297445
39MicroRNAs in cancer_Homo sapiens_hsa052061.08171117
40Fat digestion and absorption_Homo sapiens_hsa049751.07915110
41Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.06960193
42Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.06290900
43Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.04543855
44Leukocyte transendothelial migration_Homo sapiens_hsa046701.01382018
45Thyroid hormone signaling pathway_Homo sapiens_hsa049190.98185322
46Pathways in cancer_Homo sapiens_hsa052000.97985976
47Regulation of actin cytoskeleton_Homo sapiens_hsa048100.97114207
48Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.96761502
49Adipocytokine signaling pathway_Homo sapiens_hsa049200.95389704
50Nitrogen metabolism_Homo sapiens_hsa009100.95329521
51Axon guidance_Homo sapiens_hsa043600.94588598
52Ovarian steroidogenesis_Homo sapiens_hsa049130.93811142
53Gap junction_Homo sapiens_hsa045400.91833404
54Melanoma_Homo sapiens_hsa052180.89823264
55Rap1 signaling pathway_Homo sapiens_hsa040150.87810368
56Prostate cancer_Homo sapiens_hsa052150.86631356
57Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.85197296
58cAMP signaling pathway_Homo sapiens_hsa040240.84103165
59Melanogenesis_Homo sapiens_hsa049160.82789671
60Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.81831126
61Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.80632256
62Platelet activation_Homo sapiens_hsa046110.80588112
63Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.78831368
64Central carbon metabolism in cancer_Homo sapiens_hsa052300.77922060
65Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.77856147
66Toxoplasmosis_Homo sapiens_hsa051450.73997030
67Glioma_Homo sapiens_hsa052140.72905456
68Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.72176835
69Folate biosynthesis_Homo sapiens_hsa007900.72037146
70Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.71291142
71Fatty acid biosynthesis_Homo sapiens_hsa000610.70859195
72Renal cell carcinoma_Homo sapiens_hsa052110.70030604
73Salivary secretion_Homo sapiens_hsa049700.69441690
74Histidine metabolism_Homo sapiens_hsa003400.67849234
75Wnt signaling pathway_Homo sapiens_hsa043100.67826360
76Estrogen signaling pathway_Homo sapiens_hsa049150.67593409
77Gastric acid secretion_Homo sapiens_hsa049710.66778297
78Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.65191081
79Phospholipase D signaling pathway_Homo sapiens_hsa040720.63978150
80Malaria_Homo sapiens_hsa051440.63201706
81Insulin signaling pathway_Homo sapiens_hsa049100.63073092
82Ras signaling pathway_Homo sapiens_hsa040140.62318368
83Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.61754433
84Chronic myeloid leukemia_Homo sapiens_hsa052200.61536519
85Aldosterone synthesis and secretion_Homo sapiens_hsa049250.60501489
86Endometrial cancer_Homo sapiens_hsa052130.59479903
87Oxytocin signaling pathway_Homo sapiens_hsa049210.59176873
88Calcium signaling pathway_Homo sapiens_hsa040200.57692119
89Thyroid hormone synthesis_Homo sapiens_hsa049180.57089252
90Tryptophan metabolism_Homo sapiens_hsa003800.56412048
91Arginine and proline metabolism_Homo sapiens_hsa003300.54712217
92Carbon metabolism_Homo sapiens_hsa012000.52993153
93Glucagon signaling pathway_Homo sapiens_hsa049220.52992065
94Pancreatic secretion_Homo sapiens_hsa049720.52550065
95Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.51305332
96Maturity onset diabetes of the young_Homo sapiens_hsa049500.50781591
97Fatty acid elongation_Homo sapiens_hsa000620.50700908
98Prion diseases_Homo sapiens_hsa050200.50301124
99AMPK signaling pathway_Homo sapiens_hsa041520.50218846
100Longevity regulating pathway - mammal_Homo sapiens_hsa042110.49170030
101Glycosaminoglycan degradation_Homo sapiens_hsa005310.46417738
102Colorectal cancer_Homo sapiens_hsa052100.45873010
103Butanoate metabolism_Homo sapiens_hsa006500.44609917
104Bile secretion_Homo sapiens_hsa049760.43000745
105Cocaine addiction_Homo sapiens_hsa050300.42882986
106Arachidonic acid metabolism_Homo sapiens_hsa005900.42539263
107Insulin secretion_Homo sapiens_hsa049110.42535866
108HTLV-I infection_Homo sapiens_hsa051660.40999250
109MAPK signaling pathway_Homo sapiens_hsa040100.40883104
110Pyruvate metabolism_Homo sapiens_hsa006200.40461242
111Circadian entrainment_Homo sapiens_hsa047130.40163939
112Type II diabetes mellitus_Homo sapiens_hsa049300.40091886
113Glycerolipid metabolism_Homo sapiens_hsa005610.40046285
114FoxO signaling pathway_Homo sapiens_hsa040680.39634869
115Pertussis_Homo sapiens_hsa051330.39242337
116Bladder cancer_Homo sapiens_hsa052190.39240126
117Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.38868210
118GnRH signaling pathway_Homo sapiens_hsa049120.38528175
119Choline metabolism in cancer_Homo sapiens_hsa052310.38287276
120Pancreatic cancer_Homo sapiens_hsa052120.38189248
121Mineral absorption_Homo sapiens_hsa049780.37947773
122ABC transporters_Homo sapiens_hsa020100.31990220
123Phenylalanine metabolism_Homo sapiens_hsa003600.30124584
124Endocytosis_Homo sapiens_hsa041440.28812145

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